Table 1.
Clinical data of the patients and characteristics of the detected mutations
| ID | Classification | Gender | TP53 mutation | Effect | p53 protein domain function | Tumor type (age) |
|---|---|---|---|---|---|---|
| Y1T0 |
Chompret |
F |
R213Q CGA>CAA |
Missense |
DNA binding |
Hydathiform mole (23), Ampulla of Vater (41) |
| Y33T0 |
LFL Birch |
F |
V173M GTG>ATG |
Missense |
DNA binding |
Soft tissue sarcoma (23), Breast (43) |
| Y53T0 |
Eeles1 |
F |
G245S GGC>AGC |
Missense |
DNA binding |
Bilateral breast (36), Gall bladder (?) |
| Y57T0 |
Eeles1 |
F |
G244D GGC>GAC |
Missense |
DNA binding |
Breast (40), Colorectal (?) |
| Y65T0 |
Chompret |
F |
V197M GTG >ATG |
Missense |
DNA binding |
Colorectal (45), Lung (51), Soft tissue sarcoma (51) |
| Y79T0 |
Chompret |
F |
T125T ACG>ACA |
Splice |
DNA binding |
Adrenal carcinoma (1) |
| Y87T0 |
LFL/Chompret |
M |
S241Y TCC>TAC |
Missense |
DNA binding |
Rhabdomyosarcoma (2), Choroid plexus tumor (7), Liposarcoma (10) |
| Y97T1 |
LFS |
F |
IVS8+1G>A |
Splice |
DNA binding |
Breast (27) |
| Y103T2 |
LFL/Chompret |
F |
H214Q |
Missense |
DNA binding |
Breast (62) |
| Y12T1 |
LFS |
F |
R337H CGC>CAC |
Missense |
Tetramerisation |
Soft tissue sarcoma (58), Breast (59), Thyroid (61), Soft tissue sarcoma (62) |
| Y15T0 |
Chompret |
F |
R337H CGC>CAC |
Missense |
Tetramerisation |
Adrenal carcinoma (6), Kidney (7) |
| Y27T0 |
LFL Birch |
F |
R337H CGC>CAC |
Missense |
Tetramerisation |
Breast (36) |
| Y49T1 |
Eeles 1 |
M |
R337H CGC>CAC |
Missense |
Tetramerisation |
Kidney (64) |
| Y99T0 |
Chompret |
F |
R337H CGC>CAC |
Missense |
Tetramerisation |
Breast (32) |
| Y100T0 |
LFS |
F |
R337H CGC>CAC |
Missense |
Tetramerisation |
Breast (46) |
| Y106T0 |
Chompret |
F |
R337H CGC>CAC |
Missense |
Tetramerisation |
Breast (43) |
| Y107T0 |
LFS |
M |
R337H CGC>CAC |
Missense |
Tetramerisation |
Adrenal carcinoma (2) |
| Y127T0 |
Chompret |
M |
R337H CGC>CAC |
Missense |
Tetramerisation |
Adrenal carcinoma (3) |
| Y131T0 |
LFS |
F |
R337H CGC>CAC |
Missense |
Tetramerisation |
Leg synovial sarcoma (32) |
| Y144T0 |
Chompret |
F |
R337H CGC>CAC |
Missense |
Tetramerisation |
Breast (29) |
| Y154T0 | Chompret | F | R337H CGC>CAC | Missense | Tetramerisation | Breast (48) |